DYT11
MCID: DYS098
MIFTS: 29

Dystonia-11, Myoclonic (DYT11) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Dystonia-11, Myoclonic

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MalaCards based summary: Dystonia-11, Myoclonic, also known as alcohol-responsive dystonia, is related to myoclonus-dystonia and dystonia, and has symptoms including An important gene associated with Dystonia-11, Myoclonic is SGCE (sarcoglycan, epsilon). The compound dopamine have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and behavior/neurological.

Description from OMIM:46 159900

Aliases & Classifications for Dystonia-11, Myoclonic

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Sources:
48Orphanet, 62UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Dystonia-11, Myoclonic, Aliases & Descriptions:

Name: Dystonia-11, Myoclonic 46
Alcohol-Responsive Dystonia 48 62
Myoclonus-Dystonia Syndrome 48 62
Myoclonic Dystonia 48 62
 
Dyt11 48 62
Myoclonus, Hereditary Essential 62
Hereditary Essential Myoclonus 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
alcohol-responsive dystonia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal


External Ids:

OMIM46 159900
MESH via Orphanet35 C536096
ICD10 via Orphanet26 G24.1
UMLS via Orphanet63 C1834570

Related Diseases for Dystonia-11, Myoclonic

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Diseases in the Dystonia-11, Myoclonic family:

Dystonia 15, Myoclonic

Diseases related to Dystonia-11, Myoclonic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1myoclonus-dystonia30.9TOR1A, SGCE
2dystonia10.6
3myoclonus10.5
4dystonia 15, myoclonic10.4
5tyrosine hydroxylase deficiency10.2
6tremor10.2
7gilles de la tourette syndrome10.1DRD2
8focal dystonia10.0DRD2, TOR1A
9generalized dystonia10.0SGCE, TOR1A
10movement disease10.0TOR1A, SGCE
11parkinson's disease10.0TOR1A, DRD2
12obsessive-compulsive disorder9.9SGCE, DRD2

Graphical network of diseases related to Dystonia-11, Myoclonic:



Diseases related to dystonia-11, myoclonic

Symptoms for Dystonia-11, Myoclonic

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Symptoms by clinical synopsis from OMIM:

159900

Clinical features from OMIM:

159900

HPO human phenotypes related to Dystonia-11, Myoclonic:

(show all 12)
id Description Frequency HPO Source Accession
1 muscular hypotonia rare (5%) HP:0001252
2 autosomal dominant inheritance HP:0000006
3 torticollis HP:0000473
4 depression HP:0000716
5 obsessive-compulsive behavior HP:0000722
6 anxiety HP:0000739
7 agoraphobia HP:0000756
8 myoclonus HP:0001336
9 tremor HP:0001337
10 writer's cramp HP:0002356
11 juvenile onset HP:0003621
12 incomplete penetrance HP:0003829

Drugs & Therapeutics for Dystonia-11, Myoclonic

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Drug clinical trials:

Search ClinicalTrials for Dystonia-11, Myoclonic

Search NIH Clinical Center for Dystonia-11, Myoclonic

Genetic Tests for Dystonia-11, Myoclonic

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Anatomical Context for Dystonia-11, Myoclonic

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Animal Models for Dystonia-11, Myoclonic or affiliated genes

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MGI Mouse Phenotypes related to Dystonia-11, Myoclonic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.8DRD2, TOR1A, SGCE
2MP:00053868.7DRD2, TOR1A, SGCE
3MP:00053848.5DRD2, TOR1A, SGCE

Publications for Dystonia-11, Myoclonic

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Variations for Dystonia-11, Myoclonic

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UniProtKB/Swiss-Prot genetic disease variations for Dystonia-11, Myoclonic:

64 (show all 13)
id Symbol AA change Variation ID SNP ID
1SGCEp.Leu196ArgVAR_026750
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743

Clinvar genetic disease variations for Dystonia-11, Myoclonic:

6 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1DRD2NM_000795.3(DRD2): c.460G> A (p.Val154Ile)single nucleotide variantPathogenicrs104894220GRCh37Chr 11, 113287657: 113287657
2SGCENM_003919.2(SGCE): c.289C> T (p.Arg97Ter)single nucleotide variantPathogenicrs121908489GRCh37Chr 7, 94257615: 94257615
3SGCENM_003919.2(SGCE): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs121908490GRCh37Chr 7, 94257600: 94257600
4SGCESGCE, 1-BP DEL, 565AdeletionPathogenic
5SGCESGCE, 97-BP DELdeletionPathogenic
6SGCESGCE, 5-BP DEL, NT835deletionPathogenic
7SGCENM_003919.2(SGCE): c.587T> G (p.Leu196Arg)single nucleotide variantPathogenicrs121908491GRCh37Chr 7, 94248145: 94248145
8SGCESGCE, 1-BP INS, 885TinsertionPathogenic
9SGCESGCE, 1-BP DEL, 974CdeletionPathogenic
10SGCENM_003919.2(SGCE): c.1114C> T (p.Arg372Ter)single nucleotide variantPathogenicrs121908492GRCh37Chr 7, 94228226: 94228226
11SGCESGCE, EX5 DELdeletionPathogenic
12SGCESGCE, EX6 DELdeletionPathogenic
13SGCESGCE, 2-BP DEL, 619AGdeletionPathogenic

Expression for genes affiliated with Dystonia-11, Myoclonic

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Expression patterns in normal tissues for genes affiliated with Dystonia-11, Myoclonic

Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for genes affiliated with Dystonia-11, Myoclonic

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Compounds for genes affiliated with Dystonia-11, Myoclonic

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Dystonia-11, Myoclonic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dopamine44 28 24 1112.3DRD2, TOR1A

GO Terms for genes affiliated with Dystonia-11, Myoclonic

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Products for genes affiliated with Dystonia-11, Myoclonic

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dystonia-11, Myoclonic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet